Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes
Published inPediatric Diabetes, vol. 20, no. 3, p. 366-369
Publication date2019
Abstract
Keywords
- Amino Acid Substitution
- Child
- DNA Mutational Analysis/methods
- Diabetes Mellitus/congenital/genetics
- Hepatocyte Nuclear Factor 3-beta/chemistry/genetics
- Humans
- Leucine/genetics
- Male
- Models
- Molecular
- Mutation
- Missense
- Polymorphism
- Single Nucleotide
- Proline/genetics
- Syndrome
- Whole Exome Sequencing
Research groups
Funding
- Swiss National Science Foundation - CR33I3_1166591
- Swiss National Science Foundation - Monogenic diabetes: Integrating genetic screening with functional clinical biology [140655]
Citation (ISO format)
STEKELENBURG, Caroline et al. Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes. In: Pediatric Diabetes, 2019, vol. 20, n° 3, p. 366–369. doi: 10.1111/pedi.12814
Main files (1)
Article (Published version)
Secondary files (1)
Supplemental data
Identifiers
- PID : unige:127542
- DOI : 10.1111/pedi.12814
- PMID : 30684292
Journal ISSN1399-543X
